Maria L. Dufau Catt, M.D.,Ph.D.
Section on Molecular Endocrinology
NIHBC 06A 1A07
Molecular basis of the hormonal control of gonadal function
Molecular basis of the hormonal control of gonadal function with emphasis on the gene structure and regulation of the human luteinizing hormone receptor (repression and de-repression mechanisms, epigenetics, signal transduction); multiple promoter control of human prolactin receptor gene transcription by steroids and growth factors; elucidation of the function of the short forms of the prolactin receptor and their relevance to physiological regulation and breast cancer; the regulatory mechanism involved in the progress of spermatogenesis and Leydig cell function including the identification and functional characterization of a novel regulatory genes (i.e. Gonadotropin Regulated Testicular RNA Helicase- GRTH/DDX25, discovered in this laboratory) that participate in the progression of testicular gametogenesis, Leydig cell function and other endocrine processes.
Dr. Maria L. Dufau heads the Section on Molecular Endocrinology, Program in Developmental Endocrinology and Genetics, NICHD and in this capacity she directs a multidisciplinary research program on the regulation of LH/hCG and Prolactin (LHR, PRLR) receptors gene transcription and expression, the identification, functional characterization and regulation of genes that participate in the control of gonadal function. She received her M.D. and Ph.D from University of Cuyo, Mendoza, Argentina and clinical and research training at Harvard (Mass General Hospital, and Boston Lying-In). She held positions at the Clinical Research Institute in Montreal (Clinical Research Scientist); Department of Medicine, Monash University, Melbourne Australia (Lecturer); and in the Department of Pediatrics, Cornell Medical College (Visiting Scientist). She joined the NICHD as Visiting Scientist and was promoted to Section Head. She became member of the Senior Executive Service and is currently a member of the Senior Biomedical Service. Dr. Dufau has received several honors and awards including the prestigious Rockefeller Foundation Fellowship, Serono Award, NIH Director’s Award, HHS Director’s award, Medal for Excellence in Research from the University of Rome Tor Vergata and for Outstanding Achievement at the International Congress of Oncology (Crete, Greece) The Roots Award (Premio Raices) from the Ministry of Science and Technological Innovation of Argentina. She is also a member of prestigious medical societies including the American Society for Clinical Investigation and the American Association for Physicians. She is author of 350 publications and reviews in leading multidisplinary, biochemical, molecular biology, clinical, and endocrine journals. Dr. Dufau has contributed to several journals as an editorial board member.
Raju M, Hassan SA, Kavarthapu R, Anbazhagan R, Dufau ML. Characterization of the Phosphorylation Site of GRTH/DDX25 and Protein Kinase A Binding Interface Provides Structural Basis for the Design of a Non-Hormonal Male Contraceptive. Sci Rep. 2019;9(1):6705.
Kavarthapu R, Anbazhagan R, Raju M, Morris CT, Pickel J, Dufau ML. Targeted knock-in mice with a human mutation in GRTH/DDX25 reveals the essential role of phosphorylated GRTH in spermatid development during spermatogenesis. Hum Mol Genet. 2019;28(15):2561-2572.
Dufau ML, Kavarthapu R. Gonadotropin Regulation Testicular RNA Helicase, Two Decades of Studies on Its Structure Function and Regulation From Its Discovery Opens a Window for Development of a Non-hormonal Oral Male Contraceptive. Front Endocrinol (Lausanne). 2019;10:576.
Kavarthapu R, Anbazhagan R, Sharma AK, Shiloach J, Dufau ML. Linking Phospho-Gonadotropin Regulated Testicular RNA Helicase (GRTH/DDX25) to Histone Ubiquitination and Acetylation Essential for Spermatid Development During Spermiogenesis. Front Cell Dev Biol. 2020;8:310.
Kavarthapu R, Dufau ML. Essential role of endogenous prolactin and CDK7 in estrogen-induced upregulation of the prolactin receptor in breast cancer cells. Oncotarget. 2017;8(16):27353-27363.
Related Scientific Focus Areas
Molecular Biology and Biochemistry
This page was last updated on November 3rd, 2020